Genetics of cleft lip and/or cleft palate: association with other common anomalies

N Setó-Salvia, P Stanier - European journal of medical genetics, 2014 - Elsevier
Cleft lip and/or cleft palate (CL/P) collectively are well known as being amongst the most
common birth defects but we still have difficulty explaining why the majority of cases occur …

New insights into craniofacial malformations

SRF Twigg, AOM Wilkie - Human molecular genetics, 2015 - academic.oup.com
Abstract Development of the human skull and face is a highly orchestrated and complex
three-dimensional morphogenetic process, involving hundreds of genes controlling the …

Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip±cleft palate and cleft palate only

KU Ludwig, AC Böhmer, J Bowes… - Human molecular …, 2017 - academic.oup.com
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common
human birth defects with multifactorial etiology. Here, we present results from a genome …

A population-based study of effects of genetic loci on orofacial clefts

LM Moreno Uribe, T Fomina… - Journal of dental …, 2017 - journals.sagepub.com
Prior genome-wide association studies for oral clefts have focused on clinic-based samples
with unclear generalizability. Prior samples were also small for investigating effects by cleft …

MTR, MTRR, and MTHFR Gene Polymorphisms and Susceptibility to Nonsyndromic Cleft Lip With or Without Cleft Palate

W Wang, XH Jiao, XP Wang, XY Sun… - Genetic testing and …, 2016 - liebertpub.com
Objective: To examine the associations of methionine synthase (MTR), methionine synthase
reductase (MTRR), and methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms …

Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians

JC Figueiredo, S Ly, H Raimondi… - American Journal of …, 2014 - Wiley Online Library
Genome‐wide association studies (GWAS) for orofacial clefts have identified several
susceptibility regions, but have largely focused on non‐Hispanic White populations in …

The role of noncoding genetic variation in isolated orofacial clefts

F Thieme, KU Ludwig - Journal of Dental Research, 2017 - journals.sagepub.com
In the past decade, medical genetic research has generated multiple discoveries, many of
which were obtained via genome-wide association studies (GWASs). A major GWAS finding …

Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes

JC Carlson, J Standley, A Petrin, JR Shaffer… - Genetic …, 2017 - Wiley Online Library
Orofacial clefts (OFCs) are common, complex birth defects with extremely heterogeneous
phenotypic presentations. Two common subtypes—cleft lip alone (CL) and CL plus cleft …

Gene interactions provide evidence for signaling pathways involved in cleft lip/palate in humans

JA Velázquez-Aragón… - Journal of Dental …, 2016 - journals.sagepub.com
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common craniofacial birth
defect that has a complex etiology. Genome-wide association studies have recently …

Polymorphisms of ATP-Binding Cassette, Sub-Family A, Member 4 (rs560426 and rs481931) and Non-Syndromic Cleft Lip/Palate: A Meta-Analysis

MM Imani, M Sadeghi, SK Tadakamadla, A Bruehl… - Life, 2021 - mdpi.com
Background: A number of genes are associated with the incidence of non-syndromic cleft
lip/palate (NSCL/P). Studies have shown a significant association between polymorphisms …